Design and application of a 23‐gene panel by next‐generation sequencing for inherited coagulation bleeding disorders

• DOI: 10.1111/hae.12908
• Publication Date: 2016-02-16T08:01:44Z
• Authors: J. M. Bastida; M. del Rey; M. L. Lozano; M. E. Sarasquete; R. Benito; M. E. Fontecha; R. Fisac; L. J. García‐Frade; C. Aguilar; M. P. Martínez; E. Pardal; C. Aguilera; B. Pérez; R. Ramos; M. R. Cardesa; J. M. Martin‐Antorán; L. A. Silvestre; M. J. Cebeira; N. Bermejo; S. Riesco; M. C. Mendoza; R. García‐Sanz; M. González‐Díaz; J. M. Hernández‐R...; J. R. González‐Po...
• Keywords: Sanger sequencing; von Willebrand Disease; Molecular diagnostics

Molecular testing of Inherited bleeding coagulation disorders (IBCDs) not only offers confirmation diagnosis but also aids in genetic counselling, prenatal and certain cases genotype-phenotype correlations are important for predicting the clinical course disease to allow tailor-made follow-up individuals. Until recently, genotyping has been mainly performed by Sanger sequencing, a technique known be time consuming expensive. Currently, next-generation sequencing (NGS) new potential approach that enables simultaneous investigation multiple genes at manageable cost.The aim this study was design analyse applicability 23-gene NGS panel molecular patients with IBCDs.A custom target enrichment library designed capture 31 associated IBCDs. Probes were generated 296 targets cover 86.3 kb regions (all exons flanking regions) these genes. Twenty an IBCDs phenotype studied using technology.In all patients, our detected causative mutations. Twenty-one pathogenic variants found; while most them missense (18), three deletions identified. Six novel mutations affecting F8, FGA, F11, F10 VWF genes, 15 previously reported detected. 100% concordant.Our results demonstrate could accurate, reproducible reliable tool rapid